Disorders of sleep

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  • Narcolepsy
    • Rare - triggered by emotional arousal, Cataplexy = loss of muscle tone, hypnogogic and hypnopompic hallucinations, a link found between neurotransmitter Orexin  and narcolepsy
    • Lin et al: a mutant gene was identified in animals which was found to affect a receptor. Selectively bred dogs to have narcolepsy, mutation on chromosome 12 on gene responsible for regulating the neurotransmitter Orexin, seems narcolepsy is genetic in dogs. IDA = generalisability/ethics
    • 30% concordance rate in MZ
    • Genetic explanation: research in dogs (Lin et al) identified a genetic cause, mutation on chromosome 12 in dogs. Linked to HLA gene - mutation of HLA gene found in some narcoleptics. In humans narcoleptics found lower levels of Orexin - but not necessarily genetic e.g. brain trauma
    • Causes of low  Orexin: brain trauma, infection, stress, autoimmune. This would link to the HLA explanation as this gene regulates the immune response


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